repository for inherited eye diseases

Conditions: Retinitis Pigmentosa; Inherited Ophthalmic Diseases

Summary: the national ophthalmic disease genotyping and phenotyping network (eyegene(r)) is a genomic medicine initiative created by the national eye institute (nei), part of the national institutes of health (nih), in partnership with clinics and laboratories across the vision research community. the core mission of eyegene(r) is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. this study collects dna samples from patients with inherited eye diseases to facilitate research to identify genetic factors responsible for these conditions. nearly 500 genes that contribute to inherited eye diseases have been identified. as a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable. physicians in collaborating institutions will recruit patients to participate in the study. patients will provide a blood sample and undergo a standard eye examination. the blood sample and clinical information will then be sent to the nei for testing, processing and storing in the biorepository. patients are given the option to receive results back and/or to be re-contacted in the event of future clinical studies. information supplied to the testing laboratories includes a unique identification number, the patient gender, and the patient date of birth. the stored samples are available to researchers along with information about the patient's disease, but without patient identifiers....

molecular genetics has the potential to revolutionize the diagnosis and treatment of inherited eye diseases. progress in research on inherited eye disease would be augmented by the availability of patient dna coupled to robust, anonymous phenotypic information. the national ophthalmic genotyping and phenotyping network (eyegene(r)) has been created to answer this need. by creating a national dna and blood repository for inherited eye disease. these samples have been gathered from clinical centers around the nation and will be coupled to anonymous, phenotypic descriptors. if requested, a portion of the sample submitted by a clinician can be used for appropriate, clia-certified molecular diagnostics that can be used in patient care. once a sufficient repository is created, researchers will be able to request aliquots for their laboratory experiments. participants will be provided the option to be re-contacted if an approved clinical study for which they might qualify is offered. researchers can request aliquots for their laboratory experiments or ask the eyegene(r) coordinating center to re-contact participants to inform them about the possibility to participate in a clinical study.

Eligibility criteria:
* inclusion criteria: to participate in this protocol: 1a. the participant must present with characteristics that meet minimal clinical criteria established by eyegene, as determined by the referring clinician. or 1b. the participant must be a relative of an affected participant if analysis would help with the interpretation of an affected participant's test results or to obtain some useful information as decided by the eyegene research study group. 2. the participant must be willing and able to provide a suitable blood sample. exclusion criteria: * severe systemic disease that compromise the ability of the referring clinician to obtain an adequate eye examination. * any disease or condition that makes it unsafe for a subject to provide a blood sample of at least 5 ml for children and at least 15ml for adults. * inability to cooperate with phlebotomy and clinical examination. * those with impaired decision-making capability who do not have a legally-authorized representative. * if clinical criteria information, consent forms, or a blood sample can not be provided by the doctor or participant after one year of submitting a blood sample to eyegene .

Keywords: macular dystrophy phenotype-genotype correlation genetics retinitis pigmentosa inherited natural history